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Titel:

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

Dokumenttyp:
Journal Article
Autor(en):
Skoric-Milosavljevic, Doris; Tadros, Rafik; Bosada, Fernanda M; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia Ilse; Tjong, Fleur V Y; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J; Agopian, A J; Blue, Gillian M; Barge-Schaapveld, Daniela Qcm; Gewillig, Marc H; Preuss, Christoph; Lodder, Elisabeth M; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Müller-Nurasyid, Martina; Vliegen, Hubert W; Konings, Thelma C; van Melle, Joost P; van...     »
Abstract:
RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the ro...     »
Zeitschriftentitel:
Circ Res
Jahr:
2022
Band / Volume:
130
Heft / Issue:
2
Seitenangaben Beitrag:
166-180
Volltext / DOI:
doi:10.1161/CIRCRESAHA.120.317107
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34886679
Print-ISSN:
0009-7330
TUM Einrichtung:
Institut für Humangenetik
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